Towards standards for analysing structural variants from short-read whole genome sequencing data
No widely accepted standard exists for analysing structural variants from short-read whole genome sequencing (WGS) data. We use comprehensive SV truth sets (HG002 T2T-Q100, Platinum Pedigree) and long-read sequencing databases (1KGP-ONT, CoLoRS) to benchmark SV breakpoints and sizes at base pair resolution. Using 30X I...